Associated Papers
The singular French PCSK9-p.Ser127Arg gain-of-function variant: A significant player in cholesterol levels from a 775-year-old common ancestor.
Azar Y et al.
Atherosclerosis, 2024
Modelling a two-stage adult population screen for autosomal dominant familial hypercholesterolaemia: cross-sectional analysis within the UK Biobank.
Gratton J et al.
Bmj Public Health, 2023
Targeting PCSK9 to tackle cardiovascular disease.
Hummelgaard S et al.
Pharmacology & Therapeutics, 2023
A Machine Learning Model to Aid Detection of Familial Hypercholesterolemia.
Gratton J et al.
Jacc. Advances, 2023
PCSK9 in Liver Cancers at the Crossroads between Lipid Metabolism and Immunity.
Alannan M et al.
Cells, 2022
Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding.
Sarkar SK et al.
Frontiers in Physiology, 2022
A Systematic Approach to Assess the Activity and Classification of PCSK9 Variants.
Uribe KB et al.
International Journal of Molecular Sciences, 2021
PCSK9: A Multi-Faceted Protein That Is Involved in Cardiovascular Biology.
Sundararaman SS et al.
Biomedicines, 2021
Protective lipid-lowering variants in healthy older individuals without coronary heart disease.
Lacaze P et al.
Open Heart, 2021
PCSK9 Gene Participates in the Development of Primary Dyslipidemias.
Matías-Pérez D et al.
Balkan Journal of Medical Genetics : Bjmg, 2021
Physiology and role of PCSK9 in vascular disease: Potential impact of localized PCSK9 in vascular wall.
Guo Y et al.
Journal of Cellular Physiology, 2021
Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.
Xia XD et al.
Frontiers in Cardiovascular Medicine, 2021
Beyond cholesterol metabolism: The pleiotropic effects of proprotein convertase subtilisin/kexin type 9 (PCSK9). Genetics, mutations, expression, and perspective for long-term inhibition.
Cesaro A et al.
Biofactors (oxford, England), 2020
A Healthy Family of Familial Hypobetalipoproteinemia Caused by a Protein-truncating Variant in the PCSK9 Gene.
Tada H et al.
Internal Medicine (tokyo, Japan), 2020
Proprotein Convertase Subtilisin/Kexin-Type 9 and Lipid Metabolism.
Guo S et al.
Advances in Experimental Medicine and Biology, 2020
PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.
Guo Q et al.
Frontiers in Genetics, 2020
PCSK9 Gene E670G Polymorphism and Coronary Artery Disease: An Updated Meta-Analysis of 5,484 Subjects.
Li YY et al.
Frontiers in Cardiovascular Medicine, 2020
The Arg499His gain-of-function mutation in the C-terminal domain of PCSK9.
Sánchez-Hernández RM et al.
Atherosclerosis, 2019
Cell-associated heparin-like molecules modulate the ability of LDL to regulate PCSK9 uptake.
Galvan AM et al.
Journal of Lipid Research, 2019
PCSK9: From Basic Science Discoveries to Clinical Trials.
Shapiro MD et al.
Circulation Research, 2018
Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.
Chorba JS et al.
The Journal of Biological Chemistry, 2018
PCSK9 inhibition in the management of familial hypercholesterolemia.
Ogura M
Journal of Cardiology, 2018
PCSK9 Mutations in Familial Hypercholesterolemia: from a Groundbreaking Discovery to Anti-PCSK9 Therapies.
El Khoury P et al.
Current Atherosclerosis Reports, 2017
Complexity of mechanisms among human proprotein convertase subtilisin-kexin type 9 variants.
Dron JS et al.
Current Opinion in Lipidology, 2017
The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.
Seidah NG et al.
Pharmacological Reviews, 2017
Trafficking Dynamics of PCSK9-Induced LDLR Degradation: Focus on Human PCSK9 Mutations and C-Terminal Domain.
Poirier S et al.
Plos One, 2016
Protective alleles and modifier variants in human health and disease.
Harper AR et al.
Nature Reviews. Genetics, 2015
Plasma Membrane Tetraspanin CD81 Complexes with Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) and Low Density Lipoprotein Receptor (LDLR), and Its Levels Are Reduced by PCSK9.
Le QT et al.
The Journal of Biological Chemistry, 2015
Genetics of familial hypercholesterolemia.
Brautbar A et al.
Current Atherosclerosis Reports, 2015
Proprotein convertase subtilisin/kexin type 9 (PCSK9): lessons learned from patients with hypercholesterolemia.
Awan Z et al.
Clinical Chemistry, 2014
Living the PCSK9 adventure: from the identification of a new gene in familial hypercholesterolemia towards a potential new class of anticholesterol drugs.
Abifadel M et al.
Current Atherosclerosis Reports, 2014
Anti-PCSK9 therapies for the treatment of hypercholesterolemia.
Hooper AJ et al.
Expert Opinion on Biological Therapy, 2013
Mutation in the PCSK9 Gene in Omani Arab Subjects with Autosomal Dominant Hypercholesterolemia and its Effect on PCSK9 Protein Structure.
Al-Waili K et al.
Oman Medical Journal, 2013
Identification and characterization of new gain-of-function mutations in the PCSK9 gene responsible for autosomal dominant hypercholesterolemia.
Abifadel M et al.
Atherosclerosis, 2012
Proprotein convertase subtilisin/kexin type 9: from the discovery to the development of new therapies for cardiovascular diseases.
Ferri N
Scientifica, 2012
Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.
Calandra S et al.
Journal of Lipid Research, 2011
Proprotein convertase subtilisin/kexin type 9 (PCSK9): from structure-function relation to therapeutic inhibition.
Tibolla G et al.
Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2011
[Familial hypercholesterolemia in Tunisia].
Jelassi A et al.
Pathologie-biologie, 2009
Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.
Abifadel M et al.
Human Mutation, 2009
Mutation S462P in the PCSK9 gene reduces secretion of mutant PCSK9 without affecting the autocatalytic cleavage.
Cameron J et al.
Atherosclerosis, 2009
A PCSK9 variant and familial combined hyperlipidaemia.
Abifadel M et al.
Journal of Medical Genetics, 2008
[Monogenic hypercholesterolemias: new genes, new drug targets].
Mandel'shtam MIu et al.
Genetika, 2008
PCSK9 is required for the disposal of non-acetylated intermediates of the nascent membrane protein BACE1.
Jonas MC et al.
Embo Reports, 2008
Functional analysis of sites within PCSK9 responsible for hypercholesterolemia.
Pandit S et al.
Journal of Lipid Research, 2008
Identification and characterization of two non-secreted PCSK9 mutants associated with familial hypercholesterolemia in cohorts from New Zealand and South Africa.
Homer VM et al.
Atherosclerosis, 2008
Two novel mutations 685del 1 and D129G in the low-density lipoprotein receptor gene in a compound heterozygote Chinese family with familial hypercholesterolemia.
Chen K et al.
Metabolism: Clinical and Experimental, 2007